ArticleCerebellum (London, England)2020
A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.
Article in Cerebellum (London, England), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- Genome-Wide Association Study of Chronic Dizziness in the Elderly Identifies Loci Implicating MLLT10, BPTF, LINC01224, and ROS1.Journal of the Association for Research in Otolaryngology : JARO · 2023Pooled it
- [Vertigo and oculomotor disorders: diagnosis, anatomical classification and etiology].Die Ophthalmologie · 2026Review
- Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion.Neurologia · 2026Article
- Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.Cerebellum (London, England) · 2025Article
- Ancient dog introgression into the Iberian wolf genome may have facilitated adaptation to human-dominated landscapes.Genome research · 2025Article
- Fibroblast Growth Factors: Roles and Emerging Therapeutic Applications.Current drug targets · 2025Review
- GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort.EBioMedicine · 2024Article
- A Review of Ocular Movement Abnormalities in Hereditary Cerebellar Ataxias.Cerebellum (London, England) · 2024Review
- Brain 18F-FDG PET findings and sequential vestibular testing in SCA27B: a case report.Journal of neurology · 2024Article
- Analysis of etiology and clinical features of spontaneous downbeat nystagmus: a retrospective study.Frontiers in neurology · 2024Article
- Downbeat nystagmus: a clinical and pathophysiological review.Frontiers in neurology · 2024Review
- Deep IntronicThe New England journal of medicine · 2023Article
- An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.American journal of human genetics · 2023Article
- The genomic basis of high-elevation adaptation in wild house mice (Mus musculus domesticus) from South America.Genetics · 2022Article
- Update on Nystagmus and Other Ocular Oscillations.Journal of clinical neurology (Seoul, Korea) · 2021Review
- Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research.Cerebellum (London, England) · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Downbeat nystagmus (DBN) is a frequent form of acquired persisting central fixation nystagmus, often associated with other cerebellar ocular signs, such as saccadic smooth pursuit or gaze-holding deficits. Despite its distinct clinical features, the underlying etiology of DBN often remains unclear. Therefore, a genome-wide association study (GWAS) was conducted in 106 patients and 2609 healthy controls of European ancestry to identify genetic variants associated with DBN. A genome-wide significant association (p < 5 × 10
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.